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Fusion gene ID: 37468 |
FusionGeneSummary for TBK1_TMBIM4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TBK1_TMBIM4 | Fusion gene ID: 37468 | Hgene | Tgene | Gene symbol | TBK1 | TMBIM4 | Gene ID | 29110 | 51643 |
| Gene name | TANK binding kinase 1 | transmembrane BAX inhibitor motif containing 4 | |
| Synonyms | FTDALS4|IIAE8|NAK|T2K | CGI-119|GAAP|LFG4|S1R|ZPRO | |
| Cytomap | 12q14.2 | 12q14.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | serine/threonine-protein kinase TBK1NF-kB-activating kinaseNF-kappa-B-activating kinase | protein lifeguard 4Golgi anti-apoptotic proteinZ-proteintransmembrane BAX inhibitor motif-containing protein 4 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9UHD2 | Q9HC24 | |
| Ensembl transtripts involved in fusion gene | ENST00000331710, | ENST00000539652, ENST00000556010, ENST00000358230, ENST00000544599, ENST00000286424, ENST00000398033, ENST00000542724, ENST00000535812, | |
| Fusion gene scores | * DoF score | 6 X 3 X 4=72 | 4 X 2 X 2=16 |
| # samples | 5 | 4 | |
| ** MAII score | log2(5/72*10)=-0.526068811667588 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/16*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: TBK1 [Title/Abstract] AND TMBIM4 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their domain. | ||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | TBK1 | GO:0006468 | protein phosphorylation | 27103069 |
| Hgene | TBK1 | GO:0016239 | positive regulation of macroautophagy | 27103069 |
| Hgene | TBK1 | GO:0018105 | peptidyl-serine phosphorylation | 25803835|27103069 |
| Hgene | TBK1 | GO:0018107 | peptidyl-threonine phosphorylation | 27103069 |
| Hgene | TBK1 | GO:0032727 | positive regulation of interferon-alpha production | 16127453 |
| Hgene | TBK1 | GO:0032728 | positive regulation of interferon-beta production | 16127453 |
| Hgene | TBK1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 16127453 |
| Tgene | TMBIM4 | GO:0050848 | regulation of calcium-mediated signaling | 19553469 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | SARC | TCGA-DX-AB35-01A | TBK1 | chr12 | 64849737 | + | TMBIM4 | chr12 | 66547228 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| In-frame | ENST00000331710 | ENST00000539652 | TBK1 | chr12 | 64849737 | + | TMBIM4 | chr12 | 66547228 | - |
| In-frame | ENST00000331710 | ENST00000556010 | TBK1 | chr12 | 64849737 | + | TMBIM4 | chr12 | 66547228 | - |
| Frame-shift | ENST00000331710 | ENST00000358230 | TBK1 | chr12 | 64849737 | + | TMBIM4 | chr12 | 66547228 | - |
| 5CDS-5UTR | ENST00000331710 | ENST00000544599 | TBK1 | chr12 | 64849737 | + | TMBIM4 | chr12 | 66547228 | - |
| 5CDS-5UTR | ENST00000331710 | ENST00000286424 | TBK1 | chr12 | 64849737 | + | TMBIM4 | chr12 | 66547228 | - |
| 5CDS-5UTR | ENST00000331710 | ENST00000398033 | TBK1 | chr12 | 64849737 | + | TMBIM4 | chr12 | 66547228 | - |
| 5CDS-intron | ENST00000331710 | ENST00000542724 | TBK1 | chr12 | 64849737 | + | TMBIM4 | chr12 | 66547228 | - |
| 5CDS-intron | ENST00000331710 | ENST00000535812 | TBK1 | chr12 | 64849737 | + | TMBIM4 | chr12 | 66547228 | - |
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FusionProtFeatures for TBK1_TMBIM4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TBK1 | TMBIM4 |
| Serine/threonine kinase that plays an essential role inregulating inflammatory responses to foreign agents. Followingactivation of toll-like receptors by viral or bacterialcomponents, associates with TRAF3 and TANK and phosphorylatesinterferon regulatory factors (IRFs) IRF3 and IRF7 as well asDDX3X. This activity allows subsequent homodimerization andnuclear translocation of the IRFs leading to transcriptionalactivation of pro-inflammatory and antiviral genes including IFNAand IFNB. In order to establish such an antiviral state, TBK1 formseveral different complexes whose composition depends on the typeof cell and cellular stimuli. Thus, several scaffolding moleculesincluding FADD, TRADD, MAVS, AZI2, TANK or TBKBP1/SINTBAD can berecruited to the TBK1-containing-complexes. Under particularconditions, functions as a NF-kappa-B effector by phosphorylatingNF-kappa-B inhibitor alpha/NFKBIA, IKBKB or RELA to translocateNF-Kappa-B to the nucleus. Restricts bacterial proliferation byphosphorylating the autophagy receptor OPTN/Optineurin on 'Ser-177', thus enhancing LC3 binding affinity and antibacterialautophagy (PubMed:21617041). Phosphorylates SMCR8 component of theC9orf72-SMCR8 complex, promoting autophagosome maturation(PubMed:27103069). Phosphorylates and activates AKT1(PubMed:21464307). Seems to play a role in energy balanceregulation by sustaining a state of chronic, low-gradeinflammation in obesity, wich leads to a negative impact oninsulin sensitivity. Attenuates retroviral budding byphosphorylating the endosomal sorting complex required fortransport-I (ESCRT-I) subunit VPS37C (PubMed:21270402).Phosphorylates Borna disease virus (BDV) P protein(PubMed:16155125). Plays an essential role in the TLR3- and IFN-dependent control of herpes virus HSV-1 and HSV-2 infections inthe central nervous system (PubMed:22851595).{ECO:0000269|PubMed:10581243, ECO:0000269|PubMed:10783893,ECO:0000269|PubMed:11839743, ECO:0000269|PubMed:12692549,ECO:0000269|PubMed:12702806, ECO:0000269|PubMed:14703513,ECO:0000269|PubMed:15367631, ECO:0000269|PubMed:15485837,ECO:0000269|PubMed:15489227, ECO:0000269|PubMed:16155125,ECO:0000269|PubMed:18583960, ECO:0000269|PubMed:21138416,ECO:0000269|PubMed:21270402, ECO:0000269|PubMed:21464307,ECO:0000269|PubMed:21617041, ECO:0000269|PubMed:21931631,ECO:0000269|PubMed:22851595, ECO:0000269|PubMed:23453971,ECO:0000269|PubMed:23453972, ECO:0000269|PubMed:23746807,ECO:0000269|PubMed:26611359, ECO:0000269|PubMed:27103069}. | Anti-apoptotic protein which can inhibit apoptosisinduced by intrinsic and extrinsic apoptotic stimuli. Can modulateboth capacitative Ca2+ entry and inositol 1,4,5-trisphosphate(IP3)-mediated Ca2+ release. {ECO:0000269|PubMed:17319741,ECO:0000269|PubMed:19553469}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Hgene | TBK1 | chr12:64849737 | chr12:66547228 | ENST00000331710 | + | 2 | 21 | 15_23 | 29 | 730 | Nucleotide binding | ATP |
| Tgene | >TMBIM4 | chr12:64849737 | chr12:66547228 | ENST00000358230 | - | 0 | 7 | 209_229 | 32 | 239 | Intramembrane | Helical |
| Tgene | >TMBIM4 | chr12:64849737 | chr12:66547228 | ENST00000358230 | - | 0 | 7 | 119_120 | 32 | 239 | Topological domain | Lumenal |
| Tgene | >TMBIM4 | chr12:64849737 | chr12:66547228 | ENST00000358230 | - | 0 | 7 | 142_151 | 32 | 239 | Topological domain | Cytoplasmic |
| Tgene | >TMBIM4 | chr12:64849737 | chr12:66547228 | ENST00000358230 | - | 0 | 7 | 173_175 | 32 | 239 | Topological domain | Lumenal |
| Tgene | >TMBIM4 | chr12:64849737 | chr12:66547228 | ENST00000358230 | - | 0 | 7 | 197_208 | 32 | 239 | Topological domain | Cytoplasmic |
| Tgene | >TMBIM4 | chr12:64849737 | chr12:66547228 | ENST00000358230 | - | 0 | 7 | 230_238 | 32 | 239 | Topological domain | Cytoplasmic |
| Tgene | >TMBIM4 | chr12:64849737 | chr12:66547228 | ENST00000358230 | - | 0 | 7 | 60_68 | 32 | 239 | Topological domain | Lumenal |
| Tgene | >TMBIM4 | chr12:64849737 | chr12:66547228 | ENST00000358230 | - | 0 | 7 | 90_97 | 32 | 239 | Topological domain | Cytoplasmic |
| Tgene | >TMBIM4 | chr12:64849737 | chr12:66547228 | ENST00000358230 | - | 0 | 7 | 121_141 | 32 | 239 | Transmembrane | Helical |
| Tgene | >TMBIM4 | chr12:64849737 | chr12:66547228 | ENST00000358230 | - | 0 | 7 | 152_172 | 32 | 239 | Transmembrane | Helical |
| Tgene | >TMBIM4 | chr12:64849737 | chr12:66547228 | ENST00000358230 | - | 0 | 7 | 176_196 | 32 | 239 | Transmembrane | Helical |
| Tgene | >TMBIM4 | chr12:64849737 | chr12:66547228 | ENST00000358230 | - | 0 | 7 | 39_59 | 32 | 239 | Transmembrane | Helical |
| Tgene | >TMBIM4 | chr12:64849737 | chr12:66547228 | ENST00000358230 | - | 0 | 7 | 69_89 | 32 | 239 | Transmembrane | Helical |
| Tgene | >TMBIM4 | chr12:64849737 | chr12:66547228 | ENST00000358230 | - | 0 | 7 | 98_118 | 32 | 239 | Transmembrane | Helical |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Hgene | >TBK1 | chr12:64849737 | chr12:66547228 | ENST00000331710 | + | 2 | 21 | 407_657 | 29 | 730 | Coiled coil | . |
| Hgene | >TBK1 | chr12:64849737 | chr12:66547228 | ENST00000331710 | + | 2 | 21 | 658_713 | 29 | 730 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >TBK1 | chr12:64849737 | chr12:66547228 | ENST00000331710 | + | 2 | 21 | 309_385 | 29 | 730 | Domain | Note=Ubiquitin-like |
| Hgene | >TBK1 | chr12:64849737 | chr12:66547228 | ENST00000331710 | + | 2 | 21 | 9_310 | 29 | 730 | Domain | Protein kinase |
| Tgene | TMBIM4 | chr12:64849737 | chr12:66547228 | ENST00000358230 | - | 0 | 7 | 1_38 | 32 | 239 | Topological domain | Cytoplasmic |
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FusionGeneSequence for TBK1_TMBIM4 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| >In-frame_TBK1_ENST00000331710_chr12_64849737_+_TMBIM4_ENST00000539652_chr12_66547228_-_29aa >In-frame_TBK1_ENST00000331710_chr12_64849737_+_TMBIM4_ENST00000556010_chr12_66547228_-_29aa |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_TBK1_ENST00000331710_chr12_64849737_+_TMBIM4_ENST00000539652_chr12_66547228_-_87nt >In-frame_TBK1_ENST00000331710_chr12_64849737_+_TMBIM4_ENST00000556010_chr12_66547228_-_87nt |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_TBK1_ENST00000331710_chr12_64849737_+_TMBIM4_ENST00000539652_chr12_66547228_-_1279nt AATCCCAATTACTGTGTTCGCTGCTCAGGGCTCCTCATTCCCCTTTAGAGTAAAGGGCGAGGGCAACAGTGGACGGGGTGTCTCCAGACA TCCCCCTCATTACCGTGGCCGCGGAAGCCGACTCGGCAGTTGCCGCCGCGGCTGTGGTGACTACCAGACGGGCCATAGGCGTGCGCACGC GCACCCGCACCGGCGCGCCGGCCGTCGGTCACGTGGCCTCCGGCCAGGGCTTGCGAAGCCGGAAGTGTCCTGAGTCTCGAGGAGGCCGCG GGAGCCCGCCGGCGGTGGCGCGGCGGAGACCCGGCTGGTATAACAAGAGGATTGCCTGATCCAGCCAAGATGCAGAGCACTTCTAATCAT CTGTGGCTTTTATCTGATATTTTAGGCCAAGGAGCTACTGCAAATGTCTTTCGTGGAAGACATAAGCCTTTCTGAGAAAAGTCTACAGCA TTCTTTCTCTGCAGGTTCTCTTAACTACAGTGACTTCAACAGTTTTTTTATACTTTGAGTCTGTACGGACATTTGTACATGAGAGTCCTG CCTTAATTTTGCTGTTTGCCCTCGGATCTCTGGGTTTGATTTTTGCGTTGATTTTAAACAGACATAAGTATCCCCTTAACCTGTACCTAC TTTTTGGATTTACGCTGTTGGAAGCTCTGACTGTGGCAGTTGTTGTTACTTTCTATGATGTATATATTATTCTGCAAGCTTTCATACTGA CTACTACAGTATTTTTTGGTTTGACTGTGTATACTCTACAATCTAAGAAGGATTTCAGCAAATTTGGAGCAGGCCGCTGCAGGAGCCCTT CTTTTCTGTGGATTCATCATCTATGACACACACTCACTGATGCATAAACTGTCACCTGAAGAGTACGTATTAGCTGCCATCAGCCTCTAC TTGGATATCATCAATCTATTCCTGCACCTGTTACGGTTTCTGGAAGCAGTTAATAAAAAGTAAAACATGGCTAAAAGCTTACGGAGTAAG TGGAAAAGAAAGATGCGTGCTGAAAAGAGAAAAAAGAATGCCCCAAAGGAGGCCAGCAGGCTTAAAAGTATTCTCAAACTAGACGGTGAT GTTTTAATGAAAGATGTTCAAGAGATAGCAACTGTGGTGGTACCCAAACCCAAACATTGCCAAGAGAAAATGCAATGTGAGGTAAAAGAT GAAAAAGATGACATGAAAATGGAGACTGATATTAAGAGAAACAAAAAGACTCTTCTAGACCAGCATGGACAGTACCCAATATGGATGAAC >In-frame_TBK1_ENST00000331710_chr12_64849737_+_TMBIM4_ENST00000556010_chr12_66547228_-_1267nt AATCCCAATTACTGTGTTCGCTGCTCAGGGCTCCTCATTCCCCTTTAGAGTAAAGGGCGAGGGCAACAGTGGACGGGGTGTCTCCAGACA TCCCCCTCATTACCGTGGCCGCGGAAGCCGACTCGGCAGTTGCCGCCGCGGCTGTGGTGACTACCAGACGGGCCATAGGCGTGCGCACGC GCACCCGCACCGGCGCGCCGGCCGTCGGTCACGTGGCCTCCGGCCAGGGCTTGCGAAGCCGGAAGTGTCCTGAGTCTCGAGGAGGCCGCG GGAGCCCGCCGGCGGTGGCGCGGCGGAGACCCGGCTGGTATAACAAGAGGATTGCCTGATCCAGCCAAGATGCAGAGCACTTCTAATCAT CTGTGGCTTTTATCTGATATTTTAGGCCAAGGAGCTACTGCAAATGTCTTTCGTGGAAGACATAAGCCTTTCTGAGAAAAGTCTACAGCA TTCTTTCTCTGCAGGTTCTCTTAACTACAGTGACTTCAACAGTTTTTTTATACTTTGAGTCTGTACGGACATTTGTACATGAGAGTCCTG CCTTAATTTTGCTGTTTGCCCTCGGATCTCTGGGTTTGATTTTTGCGTTGATTTTAAACAGACATAAGTATCCCCTTAACCTGTACCTAC TTTTTGGATTTACGCTGTTGGAAGCTCTGACTGTGGCAGTTGTTGTTACTTTCTATGATGTATATATTATTCTGCAAGCTTTCATACTGA CTACTACAGTATTTTTTGGTTTGACTGTGTATACTCTACAATCTAAGAAGGATTTCAGCAAATTTGGAGCAGGCCGCTGCAGGAGCCCTT CTTTTCTGTGGATTCATCATCTATGACACACACTCACTGATGCATAAACTGTCACCTGAAGAGTACGTATTAGCTGCCATCAGCCTCTAC TTGGATATCATCAATCTATTCCTGCACCTGTTACGGTTTCTGGAAGCAGTTAATAAAAAGTAAAACATGGCTAAAAGCTTACGGAGTAAG TGGAAAAGAAAGATGCGTGCTGAAAAGAGAAAAAAGAATGCCCCAAAGGAGGCCAGCAGGCTTAAAAGTATTCTCAAACTAGACGGTGAT GTTTTAATGAAAGATGTTCAAGAGATAGCAACTGTGGTGGTACCCAAACCCAAACATTGCCAAGAGAAAATGCAATGTGAGGTAAAAGAT GAAAAAGATGACATGAAAATGGAGACTGATATTAAGAGAAACAAAAAGACTCTTCTAGACCAGCATGGACAGTACCCAATATGGATGAAC |
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FusionGenePPI for TBK1_TMBIM4 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| TBK1 | CDC37, HSP90AA2P, TANK, TBKBP1, TRAF2, NFKB1, IKBKG, BTRC, REL, CUL1, ANKRD28, PPP6R2, PPP6R1, NFKB2, PPP6C, RELA, SKP1, NCK1, CYLD, IRF3, TRAF3, TNFAIP3, RB1CC1, TNF, TMEM173, CALCOCO2, TLR4, TLR9, TLR3, NCOA2, AZI2, OPTN, ATG9A, CDC42BPG, FMR1, FXR2, MIB1, MAVS, AGO2, HMMR, IKBKE, LETM1, MTPAP, RBBP5, TXLNA, TXLNG, TICAM1, MIB2, NEDD4, NLRP4, DTX4, TNIP1, TAX1BP1, TBK1, MBP, XIAP, PELI1, HERC2, IRF7, TRAIP, TRIM27, SRC, NFKBIA, HSP90AA1, APP, RNF11, YWHAE, TOMM70A, TRAF3IP2, DDX58, SYK, PROS1, STX11, LATS2, EXOC2, EGFR, CCDC8, MAP1LC3B, AKT1, SOCS3, SQSTM1, STX12, STX3, STX19, APBA3, BBOX1, TRIM10, IFIT3, USP2, NTRK1, MED4, SCLT1, SSX2IP, OFD1, CEP152, CNTROB, CEP128, CEP135, CEP44, CEP63, NINL, ODF2, SASS6, STIL, XPO1, ESR1, MCM2, TRIM26, TRAF1, DYRK2, TRIM14, CTNNBL1, PBXIP1, SMURF1, TRAF6, TRIM9, GSK3B, RNF128, PLK1, HIF1AN, TXLNB, DFNB31, HERPUD1, TRAF5, TRIM23 | TMBIM4 | SLC27A4, RPN2, CCDC47, DDOST, PPIB, MTX1, PRPSAP1, DFFA, COX4I1, VKORC1 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| Hgene | TBK1 | chr12:64849737 | chr12:66547228 | ENST00000331710 | + | 2 | 21 | 621_629 | 29 | 730 | AZI2%2C TANK and TBKBP1 |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for TBK1_TMBIM4 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for TBK1_TMBIM4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TBK1 | C4225325 | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 | 2 | UNIPROT |
| Tgene | TMBIM4 | C0029927 | Ovarian Cysts | 1 | CTD_human |
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